Open AccessDominant omodysplasia—A sporadic case—A new case report and review of the literature
Author(s) -
Arabzadeh Aidin,
Baghianimoghadam Behnam,
Nabian Mohammad Hossein,
Fallah Yousef,
Ebrahimnasab Mohammad Mehdi
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.6187
Subject(s) - medicine , clinical phenotype , dysplasia , disease , rare disease , pathology , phenotype , dermatology , pediatrics , genetics , gene , biology
Omodysplasia is an extremely rare skeletal dysplasia. Since introducing this phenotype as a new syndrome, ten cases of the autosomal dominant type of this disease have been reported. Here, we present a new patient and review published articles in this field to provide a clinical diagnostic criterion.